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A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellarExpand
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Architecture of the human regulatory network derived from ENCODE data
Transcription factors bind in a combinatorial fashion to specify the on-and-off states of genes; the ensemble of these binding events forms a regulatory network, constituting the wiring diagram for aExpand
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The ENCODE (ENCyclopedia Of DNA Elements) Project
The ENCyclopedia Of DNA Elements (ENCODE) Project aims to identify all functional elements in the human genome sequence. The pilot phase of the Project is focused on a specified 30 megabases (∼1%) ofExpand
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Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput andExpand
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A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biologyExpand
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A Comparative Encyclopedia of DNA Elements in the Mouse Genome
The laboratory mouse shares the majority of its protein-coding genes with humans, making it the premier model organism in biomedical research, yet the two mammals differ in significant ways. To gainExpand
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An integrated encyclopedia of DNA elements in the human genome
The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project hasExpand
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An encyclopedia of mouse DNA elements (Mouse ENCODE)
To complement the human Encyclopedia of DNA Elements (ENCODE) project and to enable a broad range of mouse genomics efforts, the Mouse ENCODE Consortium is applying the same experimental pipelinesExpand
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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletionsExpand
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Variation in Transcription Factor Binding Among Humans
Like Father, Like Mother, Like Child Transcriptional regulation is mediated by chromatin structure, which may affect the binding of transcription factors, but the extent of howExpand
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